title: A functional promoter polymorphism in interleukin-10 gene influences susceptibility to endometriosis.
abstract: OBJECTIVE
  To investigate the involvement of inflammation in the development of endometriosis.
  
  
  METHODS
  Case-control study to investigate the association between endometriosis and four inflammation-related genes: interleukin (IL)-6, IL-10, IL-1 beta, and cyclooxygenase-2.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  We had 196 cases with pathologically proved endometriosis and 397 disease-free women as control subjects.
  
  
  METHODS
  A total of 12 single nucleotide polymorphisms (SNPs) were selected for genotyping, including functional SNPs and common tagging SNPs.
  
  
  METHODS
  Logistic regression and haplotype analyses were performed to evaluate the genetic effect with adjustment for other covariates.
  
  
  RESULTS
  Genotypes at each SNP were in Hardy-Weinberg equilibrium in either case or control subjects, except for rs1800871 at IL-10 in the case subjects (P=.04). We found that the individuals carrying minor allele C of a functional promoter SNP rs1800871 at IL-10 was associated with a reduced risk by approximately twofold compared with the common TT genotype. The T allele was reported to have a lower gene expression level than the C allele, suggesting inadequate suppression of inflammation leading to endometriosis development. Haplotype analysis of the IL-10 gene did not yield a better result. Other genes were not associated with endometriosis.
  
  
  CONCLUSIONS
  This study suggests that the functional promoter polymorphism at IL-10 may play a role in the development of endometriosis.
authors.affiliation: Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Suh-Hang Hank
authors.initials: SH
authors.lastname: Juo
authors.affiliation: Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Rita
authors.initials: R
authors.lastname: Wu
authors.affiliation: Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Chang-Shen
authors.initials: CS
authors.lastname: Lin
authors.affiliation: Graduate Institute of Occupational Safety and Health, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Family Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Ming-Tsang
authors.initials: MT
authors.lastname: Wu
authors.affiliation: Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Jau-Nan
authors.initials: JN
authors.lastname: Lee
authors.affiliation: Graduate Institute of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Center of Excellence for Environmental Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan; Department of Obstetrics and Gynecology, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. Electronic address: tsaieing@yahoo.com.
authors.forename: Eing-Mei
authors.initials: EM
authors.lastname: Tsai
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004715:Endometriosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D015810:Linkage Disequilibrium; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D011401:Promoter Regions, Genetic / Q000235:genetics; D014591:Uterine Diseases / Q000235:genetics*
chemical_list: C508609:IL10 protein, human; D016753:Interleukin-10